Clinical, Radiometabolic and Immunologic Effects of Olaparib in Locally Advanced Triple Negative Breast Cancer: The OLTRE Window of Opportunity Trial.

Introduction: Olaparib is effective in metastatic triple negative breast cancer (TNBC) carrying germline mutations in DNA damage repair (DDR) genes (g-mut). The OLTRE window-of-opportunity trial preliminarily investigated potential pathologic, radiometabolic and immune biomarkers of early-response to olaparib in g-wild-type (wt) TNBC and, as proof-of-concept in g-mut HER2-negative BC.

Methods: Patients received olaparib for 3 weeks (3w) before standard neoadjuvant chemotherapy and underwent multiple FDG-PET/CT scan (basal, after olaparib), clinical assessments (basal, every 3w), tumor biopsies and blood samplings (baseline, after olaparib).

CRB1-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes.

Cystic maculopathy has been associated with genetic disorders such as retinitis pigmentosa, X-linked retinoschisis, cone dystrophy, and foveal retinoschisis. Familial foveal retinoschisis was recently described as a rare disease caused by CRB1 variants. The authors report the phenotype-genotype pattern of a pair of dizygotic twins with early-onset cystic maculopathy due to CRB1 pathogenic variants.

Data Products, Quality and Validation of the DLR Earth Sensing Imaging Spectrometer (DESIS).

Imaging spectrometry from aerial or spaceborne platforms, also known as hyperspectral remote sensing, provides dense sampled and fine structured spectral information for each image pixel, allowing the user to identify and characterize Earth surface materials such as minerals in rocks and soils, vegetation types and stress indicators, and water constituents. The recently launched DLR Earth Sensing Imaging Spectrometer (DESIS) installed on the International Space Station (ISS) closes the long-term gap of sparsely available spaceborne imaging spectrometry data and will be part of the upcoming fleet of such new instruments in orbit. DESIS measures in the spectral range from 400 and 1000 nm with a spectral sampling distance of 2.

Oguchi type I caused by a homozygous missense variation in the SAG gene.

Oguchi disease, is a very rare form of night blindness caused by biallelic variations in the SAG or GRK1 genes, both involved in rod restoration after light stimuli. Here we report the clinical and genetic findings of an 8-year old boy with a history of reduced visual acuity, nyctalpia and hemeralopia. Clinical findings, in particular the Mizuo-Nakamura phenomenon, were compatible with a diagnosis of Oguchi disease.

Urinary proteomics for the study of genetic kidney diseases.

Despite their low prevalence, genetic kidney diseases (GKD) still represent a serious health problem. They often lead to kidney failure and to the consequent need of dialysis or kidney transplant. To date, reliable diagnosis requires laborious genetic tests and/or a renal biopsy.